CLN8

CLN8 transmembrane ER and ERGIC protein

Summary

This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with a disorder characterized by progressive epilepsy with cognitive disabilities (EPMR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. [provided by RefSeq, Jul 2017]

Known Variants409 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs140579110	8:1,705,382	G/A	downstream gene variant	—
rs6558530	8:1,706,207	A/C	—	—
rs1024120201	8:1,712,046	G/T	—	benign
rs113428006	8:1,712,049	C/T	—	benign
rs1003657407	8:1,712,058	G/A	—	likely benign
rs373818270	8:1,712,164	G/A	—	benign
rs147182852	8:1,718,770	C/G	—	likely benign
rs4875806	8:1,718,873	G/C	—	benign
rs4875957	8:1,718,971	C/T	—	benign
rs114189810	8:1,719,094	T/C	—	likely benign
rs1554448791	8:1,719,097	G/C	—	uncertain significance
rs796052361	8:1,719,099	T/G	—	likely benign
rs1554448797	8:1,719,100	T/A	—	likely benign
rs1057520272	8:1,719,101	G/A	—	likely benign
rs1410788848	8:1,719,105	A/T	—	likely benign
rs374723418	8:1,719,108	G/T	—	likely benign
rs1048152901	8:1,719,113	G/A	—	benign
rs374522261	8:1,719,175	C/T	—	benign
rs796052362	8:1,719,220	A/T	—	likely benign
rs143730802	8:1,719,221	A/G	—	pathogenic
rs1554448874	8:1,719,222	T/C	—	likely pathogenic
rs1269674233	8:1,719,225	A/G	—	uncertain significance
rs767218890	8:1,719,227	C/T	—	uncertain significance
rs773997032	8:1,719,229	T/C	—	likely benign
rs147181589	8:1,719,231	C/T	—	conflicting classifications of pathogenicity
rs368792081	8:1,719,232	G/A	—	likely benign
rs374597781	8:1,719,235	C/G	—	uncertain significance
rs200999640	8:1,719,236	G/C	—	uncertain significance
rs536738656	8:1,719,237	A/G	—	uncertain significance
rs1464108080	8:1,719,238	T/A	—	uncertain significance
rs764099428	8:1,719,239	G/A	—	uncertain significance
rs1801278049	8:1,719,240	G/C	—	uncertain significance
rs751762914	8:1,719,241	G/A	—	likely benign
rs781017885	8:1,719,243	G/T	—	uncertain significance
rs1174240541	8:1,719,246	C/T	—	uncertain significance
rs750274455	8:1,719,247	A/G	—	likely benign
rs1454175058	8:1,719,249	C/G	—	pathogenic
rs2130990075	8:1,719,253	G/A	—	likely benign
rs1775036577	8:1,719,255	G/C	—	uncertain significance
rs1563107126	8:1,719,257	A/G	—	uncertain significance
rs1801279215	8:1,719,259	T/G	—	uncertain significance
rs957551479	8:1,719,261	T/C	—	uncertain significance
rs386834129	8:1,719,266	C/A	missense variant	uncertain significance
rs886043652	8:1,719,267	T/G	—	uncertain significance
rs1057516867	8:1,719,267	—	—	pathogenic
rs2130990190	8:1,719,268	G/C	—	likely benign
rs148668081	8:1,719,270	A/G	—	uncertain significance
rs142104002	8:1,719,273	A/T	—	uncertain significance
rs942360618	8:1,719,276	C/T	—	uncertain significance
rs1256814205	8:1,719,277	A/G	—	likely benign
rs749651452	8:1,719,279	C/G	—	uncertain significance
rs763583156	8:1,719,286	G/C	—	likely benign
rs104894064	8:1,719,290	C/G	missense variant	pathogenic
rs762079123	8:1,719,291	G/T	—	likely pathogenic
rs767698401	8:1,719,292	C/T	—	likely benign
rs1276904511	8:1,719,295	C/T	—	likely benign
rs1328384846	8:1,719,296	A/T	—	uncertain significance
rs755846977	8:1,719,297	C/T	—	uncertain significance
rs933753788	8:1,719,298	G/A	—	likely benign
rs1801283486	8:1,719,300	T/C	—	uncertain significance
rs766183817	8:1,719,305	G/T	—	uncertain significance
rs753737213	8:1,719,307	C/T	—	likely benign
rs137852883	8:1,719,308	G/C	missense variant	pathogenic
rs386834139	8:1,719,308	—	—	pathogenic
rs376382403	8:1,719,310	T/C	—	likely benign
rs1366421988	8:1,719,312	G/A	—	likely pathogenic
rs1030962349	8:1,719,313	C/T	—	likely benign
rs758068226	8:1,719,314	T/G	—	uncertain significance
rs1801284979	8:1,719,317	G/C	—	uncertain significance
rs1301388199	8:1,719,318	T/C	—	uncertain significance
rs2130990585	8:1,719,322	C/T	—	likely benign
rs2130990601	8:1,719,325	C/G	—	pathogenic
rs1554448978	8:1,719,326	T/A	—	uncertain significance
rs746677418	8:1,719,328	G/C	—	uncertain significance
rs770240445	8:1,719,329	G/A	—	uncertain significance
rs753430388	8:1,719,331	C/T	—	likely benign
rs370199508	8:1,719,332	G/A	—	uncertain significance
rs1585137545	8:1,719,334	C/G	—	likely benign
rs201670636	8:1,719,337	T/G	—	uncertain significance
rs1801286645	8:1,719,343	C/T	—	likely benign
rs192196274	8:1,719,346	C/A	—	pathogenic
rs541840243	8:1,719,347	C/T	—	uncertain significance
rs2130990747	8:1,719,350	C/T	—	pathogenic
rs766132197	8:1,719,355	G/A	—	likely benign
rs1418349889	8:1,719,357	C/A	—	uncertain significance
rs765158624	8:1,719,360	C/T	—	uncertain significance
rs2130990822	8:1,719,364	C/A	—	likely benign
rs2486438494	8:1,719,365	C/T	—	likely benign
rs555757531	8:1,719,367	G/A	—	likely benign
rs757793660	8:1,719,369	A/G	—	uncertain significance
rs777453297	8:1,719,371	G/A	—	conflicting classifications of pathogenicity
rs2486438573	8:1,719,373	C/G	—	likely benign
rs780551031	8:1,719,379	C/A	—	pathogenic
rs769069643	8:1,719,380	C/T	—	uncertain significance
rs372268977	8:1,719,381	G/A	—	uncertain significance
rs1585137673	8:1,719,383	T/G	—	uncertain significance
rs796069556	8:1,719,394	C/T	—	likely benign
rs796052364	8:1,719,396	G/C	—	uncertain significance
rs2130990994	8:1,719,400	G/A	—	likely benign
rs2486438957	8:1,719,402	A/C	—	uncertain significance

Showing 100 of 409 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.